ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) (rs140666848)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202672 SCV000257834 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202672 SCV000337722 likely benign not specified 2015-12-02 criteria provided, single submitter clinical testing
Invitae RCV000542789 SCV000652613 benign Common variable immunodeficiency 8, with autoimmunity 2017-12-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659004 SCV000780807 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Clinical Genetics, Erasmus University Medical Center RCV000508598 SCV000328914 uncertain significance Hirschsprung disease 1 2016-11-18 no assertion criteria provided clinical testing

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